A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

• 影响指数: 3.538
• 发表时间: Dec 2008
• 来源期刊: Neuromuscul Disord
• DOI: 10.1016/j.nmd.2008.09.009
• PMID: 18952432
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Aguirre LA,Pérez-Bas M,Villamar M,López-Ariztegui MA,Moreno-Pelayo MA,Moreno F,del Castillo I

Mesh: DNA Mutational Analysis; Deafness / complications genetics; Dystonia / complications genetics; Humans; Male; Membrane Transport Proteins / genetics; Mitochondrial Membrane Transport Proteins / genetics; Mitochondrial Precursor Protein Import Complex Proteins; Mutation; Pedigree; Polymerase Chain Reaction; Spain; Syndrome; Young Adult

Abstract

Mohr-Tranebjaerg syndrome is a rare X-linked condition characterized by the association of dystonia and progressive postlingual sensorineural hearing impairment. Here we report the clinical and genetic findings in a Spanish patient with MTS carrying a novel mutation in the DDP1 (deafness-dystonia peptide 1) gene, which encodes TIMM8a, a component of the mitochondrial protein translocation system. The phenotypic variability observed in patients with Mohr-Tranebjaerg syndrome suggests the involvement of modifier factors which may modulate the clinical manifestations of the syndrome.